Q8TDL5 (BPIB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 93.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: BPI fold-containing family B member 1 Alternative name(s): Long palate, lung and nasal epithelium carcinoma-associated protein 1 Von Ebner minor salivary gland protein Short name=VEMSGP | ||||||
| Gene names |
| ||||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 484 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | May play a role in innate immunity in mouth, nose and lungs. |
| Subcellular location | Secreted By similarity. |
| Tissue specificity | Detected in trachea, nasal septal epithelium and lung. |
| Sequence similarities | Belongs to the BPI/LBP/Plunc superfamily. Plunc family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Signal |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | extracellular space Inferred from electronic annotation. Source: InterPro |
| Molecular_function | lipid binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8TDL5-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q8TDL5-2) The sequence of this isoform differs from the canonical sequence as follows: 1-169: Missing. 170-220: LHKLSFLVNA...MYADLLQLVK → MCCPGGHYTL...RGRARRSPWS 328-329: AA → LQ 330-484: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 21 | 21 | Potential | ||||||
| Chain | 22 – 484 | 463 | BPI fold-containing family B member 1 | PRO_0000017180 | |||||
Amino acid modifications | |||||||||
| Glycosylation | 48 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 264 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 401 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 169 | 169 | Missing in isoform 2. | VSP_015285 | |||||
| Alternative sequence | 170 – 220 | 51 | LHKLS…LQLVK → MCCPGGHYTLILRRGNRFRR EKRPAKVTGAQTEVQLAPPL PRGRARRSPWS in isoform 2. | VSP_015286 | |||||
| Alternative sequence | 328 – 329 | 2 | AA → LQ in isoform 2. | VSP_015287 | |||||
| Alternative sequence | 330 – 484 | 155 | Missing in isoform 2. | VSP_015288 | |||||
| Natural variant | 84 | 1 | I → V. Ref.5 Corresponds to variant rs1078761 [ dbSNP | Ensembl ]. | VAR_016756 | |||||
| Natural variant | 140 | 1 | T → A. Corresponds to variant rs34578060 [ dbSNP | Ensembl ]. | VAR_049747 | |||||
| Natural variant | 284 | 1 | V → M. Corresponds to variant rs6141383 [ dbSNP | Ensembl ]. | VAR_049748 | |||||
| Natural variant | 287 | 1 | D → H. Corresponds to variant rs34548457 [ dbSNP | Ensembl ]. | VAR_049749 | |||||
| Natural variant | 298 | 1 | S → P. Corresponds to variant rs6120221 [ dbSNP | Ensembl ]. | VAR_023361 | |||||
| Natural variant | 313 | 1 | S → I. Corresponds to variant rs6120222 [ dbSNP | Ensembl ]. | VAR_023362 | |||||
| Natural variant | 464 | 1 | T → S. Ref.5 Corresponds to variant rs17856249 [ dbSNP | Ensembl ]. | VAR_049750 | |||||
| Natural variant | 479 | 1 | S → T. Ref.3 Ref.5 Corresponds to variant rs1999663 [ dbSNP | Ensembl ]. | VAR_016757 | |||||
Experimental info | |||||||||
| Sequence conflict | 171 | 1 | H → Y in AAQ88958. Ref.2 | ||||||
Sequences
| ||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx." Bingle C.D., Craven C.J. Hum. Mol. Genet. 11:937-943(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Lung, Nasal epithelium and Submandibular gland. |
| [2] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT THR-479. Tissue: Cervix and Testis. |
| [4] | "The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. Rogers J.Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS VAL-84; SER-464 AND THR-479. Tissue: Skeletal muscle. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF364078 mRNA. Translation: AAM00283.1. AY358595 mRNA. Translation: AAQ88958.1. AK127971 mRNA. Translation: BAC87212.1. AK290243 mRNA. Translation: BAF82932.1. AL121901, AL355392 Genomic DNA. Translation: CAI14743.1. AL355392, AL121901 Genomic DNA. Translation: CAI19398.1. BC008429 mRNA. Translation: AAH08429.1. |
| IPI | IPI00291410. IPI00444116. |
| RefSeq | NP_149974.2. NM_033197.2. |
| UniGene | Hs.65551. |
3D structure databases | |
| ProteinModelPortal | Q8TDL5. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8TDL5. 1 interaction. |
PTM databases | |
| PhosphoSite | Q8TDL5. |
Polymorphism databases | |
| DMDM | 34395685. |
Proteomic databases | |
| PaxDb | Q8TDL5. |
| PRIDE | Q8TDL5. |
Protocols and materials databases | |
| DNASU | 92747. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000253354; ENSP00000253354; ENSG00000125999. |
| GeneID | 92747. |
| KEGG | hsa:92747. |
| UCSC | uc002wyw.1. human. |
Organism-specific databases | |
| CTD | 92747. |
| GeneCards | GC20P031864. |
| HGNC | HGNC:16108. BPIFB1. |
| HPA | HPA024256. |
| neXtProt | NX_Q8TDL5. |
| PharmGKB | PA25654. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG302127. |
| HOVERGEN | HBG052339. |
| InParanoid | Q8TDL5. |
| OMA | FFTLGIE. |
| PhylomeDB | Q8TDL5. |
Gene expression databases | |
| ArrayExpress | Q8TDL5. |
| Bgee | Q8TDL5. |
| CleanEx | HS_C20orf114. |
| Genevestigator | Q8TDL5. |
Family and domain databases | |
| InterPro | IPR017943. Bactericidal_perm-incr_a/b_dom. IPR001124. Lipid-bd_serum_glycop_C. IPR017942. Lipid-bd_serum_glycop_N. IPR021193. PLUNC_long_form. [Graphical view] |
| Pfam | PF01273. LBP_BPI_CETP. 1 hit. PF02886. LBP_BPI_CETP_C. 1 hit. [Graphical view] |
| PIRSF | PIRSF037186. PLUNC_long_form. 1 hit. |
| SMART | SM00328. BPI1. 1 hit. [Graphical view] |
| SUPFAM | SSF55394. Bactericidal_perm-incr_a/b_dom. 2 hits. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 92747. |
| NextBio | 77869. |
Entry information
| Entry name | BPIB1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8TDL5 Secondary accession number(s): A8K2H8 Q9H4V6 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 20 Human chromosome 20: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with
